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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2720683188
Gene:
Linked Data
dbSNP Id:
rs2131280240
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133635356del , CM000671.2:g.133635356del
GRCh38
NC_000009.11:g.136500478del , CM000671.1:g.136500478del
GRCh37
NC_000009.10:g.135490299del
NCBI36
NG_008645.1:g.3994del
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